Phenotypic intrafamilial heterogeneity in cystic fibrosis

The Evaluation of Folic Acid-Deficient or Folic Acid-Supplemented Diet in the Gestational Phase of Female Rats and in Their Adult Offspring Subjected to an Animal Model of Schizophrenia.

Molecular neurobiology·2017

Changes in neutral amino acid efflux and membrane potential associated with the expression of CFTR protein.

Amino acids·2013

Targeting transcription factor activity as a strategy to inhibit pro-inflammatory genes involved in cystic fibrosis: decoy oligonucleotides and low-molecular weight compounds.

Current medicinal chemistry·2010

An overview of international literature from cystic fibrosis registries: 1. Mortality and survival studies in cystic fibrosis.

Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society·2009

Inflammatory bowel disease in children and adolescents in Italy: data from the pediatric national IBD register (1996-2003).

Inflammatory bowel diseases·2008

Diversity of the basic defect of homozygous CFTR mutation genotypes in humans.

Journal of medical genetics·2008

Establishing a Prognosis When Identifying Pathogenic Variants in Usher Syndrome/DFNB-Related Genes: An Impossible Challenge?

Clinical genetics·2026

Recurrent Sterile Polyserositis Reveals an Underrecognized Autoinflammatory Phenotype in MECP2 Duplication Syndrome.

Clinical genetics·2026

Identification of Copy Number Variants as a Suspected Cause of Cerebral Small Vessel Disease.

Clinical genetics·2026

Uncovering the Genetic Landscape of Pediatric Hearing Loss Along the Texas-Mexico Border.

Clinical genetics·2026

Enhancing Diagnostic Precision in Non-Immune Hydrops Fetalis: The Incremental Value of Whole Exome Sequencing-A Prospective Cohort Study.

Clinical genetics·2026

Rare Novel Genetic Variants of the OFD1 Gene Associated With a Familial Form and a Sporadic Case of Long Bone Atypical Fractures.

Clinical genetics·2026

Absence of Germline BRCA1 and BRCA2 Copy Number Variations Among Breast Cancer Patients in the Three Southern Border Provinces of Thailand.

Asian Pacific journal of cancer prevention : APJCP·2026

A Guide for Exploring Pleiotropic Associations in Genome-Wide Association Studies Using Summary Statistics.

Statistics in medicine·2026

Insights from GWAS, TWAS, and DEG analysis: CDKN2B-AS1, MAP3K4, and P2RX2-encoded P2X2 receptor identified as potential therapeutic targets for ischemic heart disease in Russian adults and long-living individuals.

Frontiers in cardiovascular medicine·2026

The brain-gut axis in autism spectrum disorder: from gastrointestinal dysfunction to neuroimmune mechanisms.

Frontiers in psychiatry·2026

Incidental Constitutional Chromosomal Abnormalities Identified in Bone Marrow Chromosome Analysis: A Large-Scale Retrospective Study of 29,733 Individuals.

Annals of laboratory medicine·2026

Genetics-Informed Mapping Identifies a CRIM1-Associated Endocardial Inflammatory Remodeling State in Acute Myocardial Infarction.

Medical science monitor : international medical journal of experimental and clinical research·2026

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The Evaluation of Folic Acid-Deficient or Folic Acid-Supplemented Diet in the Gestational Phase of Female Rats and in Their Adult Offspring Subjected to an Animal Model of Schizophrenia.

Changes in neutral amino acid efflux and membrane potential associated with the expression of CFTR protein.

Targeting transcription factor activity as a strategy to inhibit pro-inflammatory genes involved in cystic fibrosis: decoy oligonucleotides and low-molecular weight compounds.

An overview of international literature from cystic fibrosis registries: 1. Mortality and survival studies in cystic fibrosis.

Inflammatory bowel disease in children and adolescents in Italy: data from the pediatric national IBD register (1996-2003).

Diversity of the basic defect of homozygous CFTR mutation genotypes in humans.

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Enhancing Diagnostic Precision in Non-Immune Hydrops Fetalis: The Incremental Value of Whole Exome Sequencing-A Prospective Cohort Study.

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